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Briefings in Bioinformatics|January 11, 2026
Benchmarking knowledge graph embedding models for the prediction of oligogenic combinationsInas Bosch, Barbara Gravel, Alexandre Renaux, et al.
Bioinformatics (Oxford, England)|April 11, 2024
Prioritization of oligogenic variant combinations in whole exomesBarbara Gravel, Alexandre Renaux, Sofia Papadimitriou, et al.
Database : the Journal of Biological Databases and Curation|April 12, 2022
Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases DatabaseCharlotte Nachtegael, Barbara Gravel, Arnau Dillen, et al.
BMC Bioinformatics|May 1, 2023
Faster and more accurate pathogenic combination predictions with VarCoPP2.0Nassim Versbraegen, Barbara Gravel, Charlotte Nachtegael, et al.
HGG Advances|December 29, 2022
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseasesSofia Papadimitriou, Barbara Gravel, Charlotte Nachtegael, et al.
Nucleic Acids Research|April 24, 2018
Visualizing structure-mediated interactions in supercoiled DNA moleculesShane Scott, Zhi Ming Xu, Fedor Kouzine, et al.
NAR Genomics and Bioinformatics|February 13, 2026
An ELIXIR scoping review on domain-specific evaluation metrics for synthetic data in life sciencesStyliani-Christina Fragkouli, Somya Iqbal, Lisa Crossman, et al.
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